Variant report

Variant	rs73006421
Chromosome Location	chr3:143834076-143834077
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:143690118..143691701-chr3:143832544..143834145,2	K562	blood:

Variant related genes	Relation type
ENSG00000181744	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11706025	0.89[EUR][1000 genomes]
rs11719625	0.89[EUR][1000 genomes]
rs12107761	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13314252	0.89[EUR][1000 genomes]
rs16854874	0.89[EUR][1000 genomes]
rs16854922	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2196520	0.89[EUR][1000 genomes]
rs28575778	0.89[EUR][1000 genomes]
rs9809059	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9809103	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9825324	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9850346	0.89[EUR][1000 genomes]
rs9868658	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9868954	0.89[EUR][1000 genomes]
rs9869858	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877568	chr3:143621140-143992630	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv3365190	chr3:143642195-143925886	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1010117	chr3:143750590-144093775	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv536748	chr3:143750590-144093775	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1010213	chr3:143775358-143863149	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv591923	chr3:143776096-143862350	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv591924	chr3:143776096-143864780	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1008414	chr3:143779087-143853396	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv1009018	chr3:143797683-143868350	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv532633	chr3:143802417-144440646	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv591925	chr3:143821997-144019763	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143825200-143842000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:143828800-143835000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr3:143829600-143834800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr3:143830000-143847200	Weak transcription	Aorta	Aorta
5	chr3:143831600-143837000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr3:143831600-143838200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr3:143831600-143838600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr3:143832800-143838200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr3:143832800-143838200	Weak transcription	Fetal Brain Male	brain
10	chr3:143833200-143834400	Enhancers	Brain Substantia Nigra	brain
11	chr3:143833200-143834800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:143833400-143834200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr3:143833400-143834200	Enhancers	Brain Hippocampus Middle	brain
14	chr3:143833400-143834200	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr3:143833400-143834200	Enhancers	HSMM	muscle
16	chr3:143833400-143834400	Enhancers	Brain Angular Gyrus	brain
17	chr3:143833400-143834800	Enhancers	Brain Anterior Caudate	brain
18	chr3:143833600-143834200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr3:143833600-143834200	Enhancers	Brain Cingulate Gyrus	brain
20	chr3:143833600-143835000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr3:143833800-143834200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:143833800-143834200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr3:143833800-143834200	Enhancers	Primary hematopoietic stem cells	blood
24	chr3:143833800-143834200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:143833800-143834200	Enhancers	HSMMtube	muscle
26	chr3:143833800-143834400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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